Canonical Allele Identifier: CA1583245896

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604019_132604021delinsCAA , CM000667.2:g.132604019_132604021delinsCAA	GRCh38
NC_000005.9:g.131939711_131939713delinsCAA , CM000667.1:g.131939711_131939713delinsCAA	GRCh37
NC_000005.8:g.131967610_131967612delinsCAA	NCBI36
NG_021151.1:g.52096_52098delinsCAA
NG_021151.2:g.52043_52045delinsCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2497_2499delinsCAA MANE Select	ENSP00000368100.4:p.Gln833=
ENST00000638452.2:c.2200_2202delinsCAA	ENSP00000492349.2:p.Gln734=
ENST00000638504.1:n.2105_2107delinsCAA
ENST00000638568.2:c.2200_2202delinsCAA	ENSP00000491158.2:p.Gln734=
ENST00000639899.1:n.3016_3018delinsCAA
ENST00000640655.2:c.2200_2202delinsCAA	ENSP00000491596.2:p.Gln734=
ENST00000651160.1:c.*641_*643delinsCAA	ENSP00000498829.1:n.*641_*643delinsCAA
ENST00000651658.1:n.3040_3042delinsCAA
ENST00000651723.1:c.*2580_*2582delinsCAA	ENSP00000498237.1:n.*2580_*2582delinsCAA
ENST00000652016.1:c.*714_*716delinsCAA	ENSP00000498267.1:n.*714_*716delinsCAA
ENST00000652485.1:c.2530_2532delinsCAA	ENSP00000498973.1:p.Gln844=
ENST00000378823.7:c.2497_2499delinsCAA	ENSP00000368100.4:p.Gln833=
ENST00000423956.5:c.*683_*685delinsCAA	ENSP00000390971.1:n.*683_*685delinsCAA
ENST00000533482.5:c.*2123_*2125delinsCAA	ENSP00000431225.1:n.*2123_*2125delinsCAA
NM_005732.3:c.2497_2499delinsCAA	NP_005723.2:p.Gln833=
NM_005732.4:c.2497_2499delinsCAA MANE Select	NP_005723.2:p.Gln833=